PRINTABLE CLINICIAN VIEW
Clinician orientation sheet
NM_018489.2:
Concise orientation only. Dates, normal findings, uncertainty, source boundaries, and longitudinal context remain in the complete profile.
Molecular result and profile context
- Report transcript + cDNA
- NM_018489.2:c.5138_5139del
- Report protein consequence
- p.Ser1713Cysfs*3
- Zygosity
- Heterozygous
- Molecular consequence
- Frameshift with premature termination
- Laboratory classification
- Pathogenic
- Classification source
- Original report reviewed
- Inheritance
- De novo
- Relevant additional finding
- No separate diagnostic genetic finding established
- Normalized MANE/map notation
- NM_018489.3:c.5138_5139del · NP_060959.2:p.Ser1713Cysfs*3
- Variant type
- Frameshift
- Sex
- Female
- Age group
- Ages 6–10
- Protein position
- First altered residue · aa 1,713
Approved public summary
A girl in the 6–10 age group with strong social connection and a fluctuating history involving language access, motor planning, vision, movement, sensory regulation, illness-linked changes, ENT findings, and reported treatment-associated changes